Variant report

Variant	rs58055537
Chromosome Location	chr1:220905825-220905826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220904641..220907994-chr1:220920402..220922198,3	MCF-7	breast:
2	chr1:220905806..220908552-chr1:220910412..220912750,2	K562	blood:
3	chr1:220861749..220866307-chr1:220904102..220906861,4	MCF-7	breast:
4	chr1:220905522..220909256-chr1:220918149..220921942,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117791	Chromatin interaction
ENSG00000162817	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11553965	0.88[EUR][1000 genomes]
rs11553966	0.91[EUR][1000 genomes]
rs17008339	0.94[EUR][1000 genomes]
rs2088044	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2101771	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2172699	0.81[EUR][1000 genomes]
rs2172700	0.81[EUR][1000 genomes]
rs2172704	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3738175	0.91[EUR][1000 genomes]
rs6673650	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72472365	0.94[EUR][1000 genomes]
rs73107682	0.85[EUR][1000 genomes]
rs7533858	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs58055537	C1orf115	Cis_1M	lymphoblastoid	RTeQTL
rs58055537	MOSC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220903600-220907000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:220904400-220906000	Weak transcription	Small Intestine	intestine
3	chr1:220905400-220906400	Enhancers	Spleen	Spleen
4	chr1:220905400-220906600	Enhancers	HepG2	liver
5	chr1:220905600-220906000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:220905600-220906000	Enhancers	Left Ventricle	heart
7	chr1:220905600-220906000	Enhancers	Psoas Muscle	Psoas
8	chr1:220905600-220906000	Enhancers	Right Atrium	heart
9	chr1:220905600-220906000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:220905600-220906000	Enhancers	Stomach Mucosa	stomach
11	chr1:220905600-220906000	Enhancers	Osteobl	bone
12	chr1:220905600-220906200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:220905600-220906200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:220905600-220906200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:220905600-220906400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:220905600-220906400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:220905600-220906400	Enhancers	Pancreas	Pancrea
18	chr1:220905600-220906600	Flanking Active TSS	HUVEC	blood vessel
19	chr1:220905600-220907000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:220905600-220908600	Enhancers	NHLF	lung
21	chr1:220905800-220906000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:220905800-220906000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:220905800-220906000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:220905800-220906000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:220905800-220906000	Enhancers	Brain Hippocampus Middle	brain
26	chr1:220905800-220906000	Enhancers	Colonic Mucosa	Colon
27	chr1:220905800-220906000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr1:220905800-220906000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr1:220905800-220906000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:220905800-220906000	Enhancers	Hela-S3	cervix
31	chr1:220905800-220906000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:220905800-220906200	Enhancers	Fetal Brain Male	brain
33	chr1:220905800-220906200	Enhancers	Fetal Intestine Small	intestine
34	chr1:220905800-220906200	Enhancers	Lung	lung
35	chr1:220905800-220906200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr1:220905800-220906400	Flanking Active TSS	Liver	Liver
37	chr1:220905800-220907000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr1:220905800-220908600	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links